3
Publications
95
Citations
3
H-Index
2018
Active since
Affiliations
Erik M.F. Machal is an author at University of Kassel specializing in medicine, pharmacology, and signal transduction.
Top concepts
MedicineGeneticsDysplasiaEmbryologyBiochemistryPharmacologyDrug DiscoveryMolecular GeneticsSignal TransductionCongenital Disorders
Publications per year
2018–2021
3
3
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome
Adrián Palencia‐Campos, Phillip C. Aoto, Erik M.F. Machal et al. · The American Journal of Human Genetics · 2020 · 50 citations · Full text
Developmental Anomaly, Mosaic Variants, Developmental Biology +9
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1–3 of 3